Krabbe's disease (Globoid cell leukodystrophy)

Krabbe's disease is a rare, inherited and often fatal degenerative disorder of the nervous system caused by a defect in chromosome 14. Doctors may also refer to this disorder as globoid cell leukodystrophy. Children with Krabbe's disease have a deficiency of a specific enzyme, which leads to the destruction of myelin, a fatty substance that protects many nerves.

Krabbe's disease is inherited in an autosomal recessive pattern — which means both parents must carry the defective gene in order to pass the disease to their children. Infants with Krabbe's disease appear normal at birth. Signs and symptoms usually begin before the age of 1 year and include:

• Irritability
• Feeding difficulties
• Failure to thrive
• Unexplained fevers
• Changes in muscle tone from floppy to rigid
• No response to sounds, due to hearing loss
• Inability to follow faces or motions, due to vision problems
• Seizures

A doctor may confirm a diagnosis of Krabbe's disease by:

• Signs and symptoms
• Physical examination
• Blood tests
• Magnetic resonance imaging (MRI) scan of the brain
• Computerized tomography (CT) scan of the head
• Nerve conduction studies
• Genetic testing for gene mutations

There's no cure for Krabbe's disease. Treatment typically is directed at minimizing the signs and symptoms. However, some children with Krabbe's disease may benefit from bone marrow transplant or umbilical-cord blood transfusion. The average life expectancy for infants diagnosed with this disorder is less than 2 years. If you have a family history of Krabbe's disease, you may want to consider genetic counseling.